Prenatal diagnosis of Maroteaux-Lamy syndrome.
Maroteaux-Lamy syndrome exhibits deficient activity of the enzyme arylsulfatase-B in cultured skin fibroblasts. Prenatal diagnosis was successfully attempted in two pregnancies of a consanguineous Chaldean couple whose first child is affected with Maroteaux-Lamy syndrome. In both instances, deficient arylsulfatase-B activity was observed in amniotic fluid cell cultures, and the diagnosis was confirmed by 35S-sulfate studies and postmortem enzymology and electron microscopy. The prenatal diagnosis of Maroteaux-Lamy syndrome remains problematic. Residual activity of arylsulfatase-B in the affected homozygote can make interpretation difficult, and the behavior of many lysosomal enzymes varies greatly in response to tissue culture conditions and enzyme extraction processes.
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002648:Child; D002803:Chondro-4-Sulfatase / Q000172:deficiency*; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013429:Sulfatases / Q000172:deficiency*
D013429:Sulfatases; D002803:Chondro-4-Sulfatase